P86T (p.Pro86Thr) variant of GCH1 (GTP cyclohydrolase 1)
P86T (p.Pro86Thr) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
P86T (p.Pro86Thr) variant details
- p.Pro86Thr
- ExAC rs781177989
- gnomAD rs781177989
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.54
- CADD 23.10
- PolyPhen-2 0.07
- SIFT 0.15
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available